Canonical Allele Identifier: PA108749
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12859
ClinVar RCV Id: RCV000013717 RCV000345657 RCV000404574 RCV001508911 RCV004017236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Asp791Glu
CA122762
NM_003126.2:c.2373C>A
CA343002570
NM_003126.2:c.2373C>G